Canonical Allele Identifier: CA340728540
Gene: IL23R HGNC NCBI

Linked Data

ClinVar Variation Id: 2954749
ClinVar RCV Id: RCV003815948
dbSNP Id: rs1336720183
gnomAD v2: 1-67724417-G-A
gnomAD v3: 1-67258734-G-A
gnomAD v4: 1-67258734-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67258734G>A , CM000663.2:g.67258734G>A GRCh38
NC_000001.10:g.67724417G>A , CM000663.1:g.67724417G>A GRCh37
NC_000001.9:g.67497005G>A NCBI36
NG_011498.1:g.97249G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697149.1:c.1335G>A ENSP00000513138.1:n.1335G>A
ENST00000697150.1:c.1393G>A ENSP00000513139.1:n.1393G>A
ENST00000697151.1:c.1326G>A ENSP00000513140.1:n.1326G>A
ENST00000697164.1:c.1406G>A ENSP00000513153.1:p.Ser469Asn
ENST00000697165.1:c.1193G>A ENSP00000513154.1:p.Ser398Asn
ENST00000347310.10:c.1496G>A MANE Select ENSP00000321345.5:p.Ser499Asn
ENST00000637002.1:c.887G>A ENSP00000490340.1:p.Ser296Asn
ENST00000347310.9:c.1496G>A ENSP00000321345.5:p.Ser499Asn
ENST00000395227.2:c.290G>A ENSP00000378652.2:p.Ser97Asn
ENST00000425614.3:c.731G>A ENSP00000387640.2:p.Ser244Asn
ENST00000473881.2:c.*322G>A ENSP00000486667.1:n.*322G>A
NM_144701.2:c.1496G>A NP_653302.2:p.Ser499Asn
XM_005270516.2:c.734G>A XP_005270573.1:p.Ser245Asn
XM_011540789.1:c.1586G>A XP_011539091.1:p.Ser529Asn
XM_011540790.1:c.1496G>A XP_011539092.1:p.Ser499Asn
XM_011540791.1:c.1496G>A XP_011539093.1:p.Ser499Asn
XM_011540790.3:c.1496G>A XP_011539092.1:p.Ser499Asn
XM_011540791.3:c.1496G>A XP_011539093.1:p.Ser499Asn
XR_001736993.1:n.1576G>A
NM_144701.3:c.1496G>A MANE Select NP_653302.2:p.Ser499Asn